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Journal of Inherited Metabolic Disease|November 7, 2015
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic conceptsChristian Staufner, Tobias B Haack, Marlies G Köpke, et al.
American Journal of Human Genetics|June 16, 2015
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in InfancyTobias B Haack, Christian Staufner, Marlies G Köpke, et al.
American Journal of Human Genetics|November 27, 2012
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIATobias B Haack, Penelope Hogarth, Michael C Kruer, et al.
American Journal of Human Genetics|September 3, 2016
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal PolyneuropathiesMichaela Auer-Grumbach, Stefan Toegel, Maria Schabhüttl, et al.
Lancet (London, England)|October 2, 2012
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyAnita Rauch, Dagmar Wieczorek, Elisabeth Graf, et al.
Nature Neuroscience|March 25, 2015
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementiaAxel Freischmidt, Thomas Wieland, Benjamin Richter, et al.
American Journal of Human Genetics|September 3, 2013
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathyXiaowu Gai, Daniele Ghezzi, Mark A Johnson, et al.
American Journal of Human Genetics|December 1, 2014
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndromeDagmar Wieczorek, William G Newman, Thomas Wieland, et al.
Human Genetics|October 20, 2014
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrumAlma Kuechler, Marjolein H Willemsen, Beate Albrecht, et al.
Human Genetics|September 1, 2018
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)Nuria C Bramswig, Aida M Bertoli-Avella, Beate Albrecht, et al.
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